Details

Autor(en) / Beteiligte

• Cehajic-Kapetanovic, Jasmina
• Xue, Kanmin
• Martinez-Fernandez de la Camara, Cristina
• Nanda, Anika
• Davies, Alexandra
• Wood, Laura J
• Salvetti, Anna Paola
• Fischer, M Dominik
• Aylward, James W
• Barnard, Alun R
• Jolly, Jasleen K
• Luo, Edmond
• Lujan, Brandon J
• Ong, Tuyen
• Girach, Aniz
• Black, Graeme C M
• Gregori, Ninel Z
• Davis, Janet L
• Rosa, Potyra R
• Lotery, Andrew J
• Lam, Byron L
• Stanga, Paulo E
• MacLaren, Robert E

Titel

Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR

Ist Teil von

• Nature medicine, 2020-03, Vol.26 (3), p.354-359

Ort / Verlag

United States

Erscheinungsjahr

2020

Quelle

MEDLINE

Beschreibungen/Notizen

• Retinal gene therapy has shown great promise in treating retinitis pigmentosa (RP), a primary photoreceptor degeneration that leads to severe sight loss in young people. In the present study, we report the first-in-human phase 1/2, dose-escalation clinical trial for X-linked RP caused by mutations in the RP GTPase regulator (RPGR) gene in 18 patients over up to 6 months of follow-up (https://clinicaltrials.gov/: NCT03116113). The primary outcome of the study was safety, and secondary outcomes included visual acuity, microperimetry and central retinal thickness. Apart from steroid-responsive subretinal inflammation in patients at the higher doses, there were no notable safety concerns after subretinal delivery of an adeno-associated viral vector encoding codon-optimized human RPGR (AAV8-coRPGR), meeting the pre-specified primary endpoint. Visual field improvements beginning at 1 month and maintained to the last point of follow-up were observed in six patients.